Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred

scientific article (publication date: June 1976)

Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/S0022-3476(76)81050-5
P953full work available at URLhttps://api.elsevier.com/content/article/PII:S0022347676810505?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0022347676810505?httpAccept=text/xml
P698PubMed publication ID1271196

P2093author name stringJ. A. Peterson
L. Weiss
W. A. Reynolds
C. E. Jackson
T. F. Forman
P2860cites workDominant erbliche AkrocephalosyndaktylieQ29307343
On lumpers and splitters, or the nosology of genetic diseaseQ34206168
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectphenotypeQ104053
congenital foot deformityQ54945820
AmishQ104444
craniosynostosisQ378183
Jackson–Weiss syndromeQ6118062
P304page(s)963-8
P577publication date1976-06-01
P1433published inThe Journal of PediatricsQ7743611
P1476titleCraniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred
Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred
P478volume88

Reverse relations

cites work (P2860)
Q33671267A case of deletion 2q35----qter and a peculiar phenotype
Q35238921A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Q35581724Actual concepts in scaphocephaly : (an experience of 98 cases).
Q52057023An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation.
Q41577248Autosomal dominant trigonocephaly
Q28188022Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred
Q33947191Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
Q72161173Craniofacial syndromes: no such thing as a single gene disease
Q35888956Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.
Q35881482FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing
Q47166239Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis
Q33929275Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes
Q41491086Fibroblast growth factors, their receptors and receptor disorders
Q37312587Genetics of craniosynostosis: review of the literature.
Q68749877Germinal mosaicism in Crouzon syndrome
Q50598904Hearing loss in Pfeiffer's syndrome
Q28300015Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
Q33911968Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses
Q24315050Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
Q56387873Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities
Q52135591Jackson-Weiss syndrome.
Q33588195Linkage analysis in dominant acrocephalosyndactyly
Q42950837Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development
Q56380807Pfeiffer mutation in an apert patient: How wide is the spectrum of variability due to mutations in the FGFR2 gene?
Q33668077Pitfalls of genetic counselling in Pfeiffer's syndrome
Q52590754Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
Q61854983RETRACTED ARTICLE: Fetal methotrexate syndrome and Antley-Bixler syndrome should not be confused
Q44806803Saethre-Chotzen syndrome (ACS III) in four generations
Q57386919Saethre-Chotzen syndrome: A broad and variable pattern of skeletal malformations
Q26860951Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism
Q24514974The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p
Q41671709The molecular pathology of syndromic craniosynostosis
Q33668492Variable expression in Pfeiffer syndrome.
Q56334485[Classification of craniosynostosis]

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